Paralogue Annotation for CACNA1C residue 323

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 323
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 323

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G343D	Myoclonic epilepsy of infancy	High	4	12566275

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	----------------D--DPSPCALETGH>G<RQ-CQN-GTVCKPGWDGPKHGITNFDNFAF	351
CACNA1A	----------------E--SPAPCGTEEPA>-<RT-C-PNGTKCQPYWEGPNNGITQFDNILF	306
CACNA1B	----------------V--GDFPCGKEAPA>-<RL-C-EGDTECREYWPGPNFGITNFDNILF	302
CACNA1D	----------------E--DPAPCAFSGNG>R<-Q-CTANGTECRSGWVGPNGGITNFDNFAF	352
CACNA1E	----------------D--PPHPCGVQG-->-<---C-PAGYEC-KDWIGPNDGITQFDNILF	297
CACNA1F	----------------E--DPSPCASSGSG>R<-A-CTLNQTECRGRWPGPNGGITNFDNFFF	318
CACNA1G	GGGPPCG-LDYEAYNS---------SSNTT>C<-VNWNQYYTNCSAGEHNPFKGAINFDNIGY	342
CACNA1H	-LRMPCT-LGWEAYTQP--QAEGVGAARNA>C<-INWNQYYNVCRSGDSNPHNGAINFDNIGY	366
CACNA1I	-QGRECCLSKDDVYDFG--AGRQDLNASGL>C<-VNWNRYYNVCRTGSANPHKGAINFDNIGY	345
CACNA1S	----------------E--EPSPCARTGSG>R<-R-CTINGSECRGGWPGPNHGITHFDNFGF	280
SCN10A	-S-SHRK-PDIYINKRGTSDPLLCGNGSDS>G<-H-C-PDGYICLKTSDNPDFNYTSFDSFAW	344
SCN11A	PE---AY-DHCFEKKENSPEFKMCGIWMGN>S<-A-C-SIQYECKHTKINPDYNYTNFDNFGW	347
SCN1A	WKSYIQD-SRYHYFLEGFLDALLCGNSSDA>G<-Q-C-PEGYMCVKAGRNPNYGYTSFDTFSW	370
SCN2A	WDEYIED-KSHFYFLEGQNDALLCGNSSDA>G<-Q-C-PEGYICVKAGRNPNYGYTSFDTFSW	372
SCN3A	WKDYIGD-DSHFYVLDGQKDPLLCGNGSDA>G<-Q-C-PEGYICVKAGRNPNYGYTSFDTFSW	371
SCN4A	WDAYISD-EGNFYFLEGSNDALLCGNSSDA>G<-H-C-PEGYECIKTGRNPNYGYTSYDTFSW	394
SCN5A	LDLYLSD-PENYLLKNGTSDVLLCGNSSDA>G<-T-C-PEGYRCLKAGENPDHGYTSFDSFAW	360
SCN7A	NPYYIRE-TENFYYLEGERYALLCGNRTDA>G<-Q-C-PEGYVCVKAGINPDQGFTNFDSFGW	341
SCN8A	WEEYINN-KTNFYTVPGMLEPLLCGNSSDA>G<-Q-C-PEGYQCMKAGRNPNYGYTSFDTFSW	358
SCN9A	EEDF----RKYFYYLEGSKDALLCGFSTDS>G<-Q-C-PEGYTCVKIGRNPDYGYTSFDTFSW	349
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 323 for CACNA1C.